ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827785457
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189869
ClinVar RCV Id:
RCV000180822
RCV000412755
RCV000457088
RCV000763459
RCV002281565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Arg903His
CA303154
NM_001353958.2:c.2708G>A